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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 389 - 392 (4page)
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Hereditary sideroblastic anemia (SA) is characterized by anemia with ringed sideroblasts in the bone marrow (BM) [1]. Phenotypic expression is highly variable, and the most common hereditary SA is X-linked sideroblastic anemia (XLSA, OMIM #300751) caused by mutation of the erythroid-specific δ-aminolevulinate synthase gene, ALAS2 [2-4].
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참고문헌 (11)
참고문헌 신청
Cazzola M / 2011 / Ring sideroblasts and sideroblastic anemias / Haematologica 96:789~792
Barton JC / 2006 / Disparate phenotypic expression of ALAS2 R452H (nt 1407 G$\rightarrow$ A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma / Blood Cells Mol Dis 36:342~346
Cazzola M / 2002 / Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation / Blood 100:4236~4238
Cotter PD / 1995 / Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts / J Clin Invest 96:2090~2096
Li H / 2013 / Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM / arXiv preprint arXiv:1303.3997
Barton JC / 2006 / Disparate phenotypic expression of ALAS2 R452H (nt 1407 G
Cazzola M / 2002 / Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation / Blood 100:4236~4238
Cotter PD / 1995 / Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts / J Clin Invest 96:2090~2096
Li H / 2013 / Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM / arXiv preprint arXiv:1303.3997
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